Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Dip2a'

4706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dip2a

Ensembl Gene

ENSMUSG00000020231

Gene Name

disco interacting protein 2 homolog A

Synonyms

Kiaa0184-hp, 4931420H10Rik, Dip2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

76259429-76345291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76313236 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 194 (M194L)

Ref Sequence

ENSEMBL: ENSMUSP00000125184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048]

Predicted Effect

probably benign
Transcript: ENSMUST00000036033
AA Change: M233L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: M233L

Domain	Start	End	E-Value	Type
DMAP_binding	9	122	2.55e-35	SMART
low complexity region	173	208	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
Pfam:AMP-binding	330	806	4.3e-26	PFAM
Pfam:AMP-binding	982	1456	1.4e-52	PFAM
low complexity region	1487	1498	N/A	INTRINSIC
low complexity region	1511	1532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105417
AA Change: M233L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: M233L

Domain	Start	End	E-Value	Type
DMAP_binding	9	122	2.55e-35	SMART
low complexity region	173	208	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
Pfam:AMP-binding	330	806	6.6e-28	PFAM
Pfam:AMP-binding	992	1466	7.3e-65	PFAM
low complexity region	1497	1508	N/A	INTRINSIC
low complexity region	1521	1542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160048
AA Change: M194L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: M194L

Domain	Start	End	E-Value	Type
DMAP_binding	9	83	7.94e-23	SMART
low complexity region	134	169	N/A	INTRINSIC
low complexity region	242	254	N/A	INTRINSIC
Pfam:AMP-binding	291	767	5.3e-26	PFAM
Pfam:AMP-binding	943	1417	1.7e-52	PFAM
low complexity region	1448	1459	N/A	INTRINSIC
low complexity region	1472	1493	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162766

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cckar	T	A	5: 53,699,829	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Cln8	G	A	8: 14,896,637	C217Y	probably benign	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
Gnpat	A	G	8: 124,885,013	E513G	probably damaging	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Pkn3	G	A	2: 30,081,104	A228T	probably damaging	Het
Rad17	A	T	13: 100,629,525	I365K	probably benign	Het
Rad17	A	T	13: 100,629,523	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Ttc27	T	A	17: 74,780,816	C459S	probably damaging	Het
Washc2	A	G	6: 116,256,676	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Dip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Dip2a	APN	10	76292318	missense	probably damaging	0.99
IGL01685:Dip2a	APN	10	76327749	missense	probably damaging	1.00
IGL01825:Dip2a	APN	10	76272680	nonsense	probably null
IGL02343:Dip2a	APN	10	76319478	missense	probably benign	0.00
IGL02437:Dip2a	APN	10	76298267	missense	probably benign	0.09
IGL02981:Dip2a	APN	10	76276421	missense	possibly damaging	0.84
IGL03122:Dip2a	APN	10	76275046	missense	probably benign	0.00
IGL03261:Dip2a	APN	10	76305148	missense	possibly damaging	0.80
R0369:Dip2a	UTSW	10	76298787	missense	probably damaging	1.00
R0522:Dip2a	UTSW	10	76321531	missense	probably benign	0.03
R0962:Dip2a	UTSW	10	76292432	unclassified	probably benign
R1164:Dip2a	UTSW	10	76276397	missense	possibly damaging	0.72
R1309:Dip2a	UTSW	10	76279776	missense	probably damaging	1.00
R1426:Dip2a	UTSW	10	76279820	unclassified	probably benign
R1636:Dip2a	UTSW	10	76321578	missense	probably benign	0.01
R1823:Dip2a	UTSW	10	76278502	nonsense	probably null
R1830:Dip2a	UTSW	10	76317963	missense	probably damaging	1.00
R1876:Dip2a	UTSW	10	76318091	missense	probably damaging	1.00
R2284:Dip2a	UTSW	10	76313193	missense	probably benign	0.01
R2369:Dip2a	UTSW	10	76313196	missense	probably benign
R4050:Dip2a	UTSW	10	76278607	missense	probably damaging	1.00
R4089:Dip2a	UTSW	10	76278489	splice site	probably null
R4231:Dip2a	UTSW	10	76319470	missense	probably damaging	1.00
R4715:Dip2a	UTSW	10	76296406	missense	probably benign	0.34
R4752:Dip2a	UTSW	10	76276657	missense	probably damaging	1.00
R4846:Dip2a	UTSW	10	76321493	missense	probably damaging	1.00
R4849:Dip2a	UTSW	10	76294533	missense	probably damaging	1.00
R4892:Dip2a	UTSW	10	76280759	missense	probably benign	0.02
R4998:Dip2a	UTSW	10	76319556	nonsense	probably null
R5068:Dip2a	UTSW	10	76318043	missense	possibly damaging	0.82
R5141:Dip2a	UTSW	10	76270453	missense	probably damaging	1.00
R5253:Dip2a	UTSW	10	76299997	missense	probably damaging	1.00
R5304:Dip2a	UTSW	10	76294523	missense	possibly damaging	0.67
R5324:Dip2a	UTSW	10	76296393	missense	probably damaging	1.00
R5369:Dip2a	UTSW	10	76292360	missense	probably damaging	1.00
R6272:Dip2a	UTSW	10	76286407	makesense	probably null
R6884:Dip2a	UTSW	10	76272532	critical splice donor site	probably null
R7143:Dip2a	UTSW	10	76297791	missense	probably damaging	1.00
R7247:Dip2a	UTSW	10	76272532	critical splice donor site	probably null
R7252:Dip2a	UTSW	10	76273202	missense	not run
R7327:Dip2a	UTSW	10	76272562	missense	probably benign	0.41
R7334:Dip2a	UTSW	10	76274246	missense	possibly damaging	0.91
R7349:Dip2a	UTSW	10	76285592	missense	probably damaging	1.00
R7360:Dip2a	UTSW	10	76278560	missense	probably damaging	1.00
R7513:Dip2a	UTSW	10	76313235	missense	probably benign
R7793:Dip2a	UTSW	10	76278583	missense	probably benign	0.06
R7794:Dip2a	UTSW	10	76276625	missense	probably damaging	1.00
R7819:Dip2a	UTSW	10	76291028	missense	probably benign	0.06
R8079:Dip2a	UTSW	10	76287321	missense	probably benign
R8280:Dip2a	UTSW	10	76264776	missense	possibly damaging	0.75
R8281:Dip2a	UTSW	10	76276604	missense	probably damaging	1.00
R8286:Dip2a	UTSW	10	76286463	missense	probably benign
R8350:Dip2a	UTSW	10	76264856	missense	probably damaging	1.00
R8450:Dip2a	UTSW	10	76264856	missense	probably damaging	1.00
Z1088:Dip2a	UTSW	10	76285628	missense	probably benign	0.06
Z1176:Dip2a	UTSW	10	76266323	missense	possibly damaging	0.94
Z1176:Dip2a	UTSW	10	76280820	missense	probably damaging	0.97
Z1177:Dip2a	UTSW	10	76266322	missense	possibly damaging	0.51
Z1177:Dip2a	UTSW	10	76296400	missense	probably damaging	1.00

Posted On

2012-04-20